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Gene: Lama3 MGI:99909

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
laminin, alpha 3
Synonyms:
nicein, 150kDa,  [a]3B

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Lama3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Lama3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Intermediate Generalized Junctional Epidermolysis Bullosa
Palmoplantar keratoderma, Atrophic scars, Milia, Oral mucosal blisters, Scarring alopecia of scal... ORPHA:79402
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Amelogenesis imperfecta, Enamel hypoplasia, Skin ulcer OMIM:245660
Severe Generalized Junctional Epidermolysis Bullosa
Abnormal oral mucosa morphology, Skin erosion, Failure to thrive, Erosion of oral mucosa, Enamel ... ORPHA:79404
Epidermolysis Bullosa, Junctional 2A, Intermediate
Oral mucosal blisters OMIM:619783
Epidermolysis Bullosa, Junctional 2B, Severe
Oral mucosal blisters OMIM:619784

The table below shows human diseases predicted to be associated to Lama3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Regional Odontodysplasia
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... ORPHA:83450
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Hyperkeratotic papule, Atypical scarring of skin, Carious teeth, Keloids, Localized skin lesion, ... ORPHA:79410
Darier Disease
Plantar pits, Palmoplantar keratoderma, Subungual hyperkeratotic fragments, Acrokeratosis, Skin v... ORPHA:218
Epidermolysis Bullosa, Junctional 1B, Severe
Carious teeth, Failure to thrive, Atrophic scars, Milia, Enamel hypoplasia, Congenital localized ... OMIM:226700
Dentin Dysplasia, Type I
Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration... OMIM:125400
Junctional Epidermolysis Bullosa Inversa
Localized skin lesion, Carious teeth, Atrophic scars, Milia, Oral mucosal blisters, Enamel hypopl... ORPHA:79405
Intermediate Generalized Junctional Epidermolysis Bullosa
Palmoplantar keratoderma, Atrophic scars, Milia, Oral mucosal blisters, Scarring alopecia of scal... ORPHA:79402
Amelogenesis Imperfecta
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... ORPHA:88661
Epidermolysis Bullosa, Junctional 1A, Intermediate
Carious teeth, Camptodactyly of finger, Oral mucosal blisters, Hypodontia, Enamel hypoplasia, Pla... OMIM:226650
Amelogenesis Imperfecta, Type Ia
Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia OMIM:104530
Shaheen Syndrome
Carious teeth, Palmoplantar hyperkeratosis, Enamel hypoplasia OMIM:615328
Familial Benign Chronic Pemphigus
Erythema, Skin erosion, Skin vesicle, Acantholysis, Hyperkeratosis ORPHA:2841
Pruritic Urticarial Papules And Plaques Of Pregnancy
Erythematous papule, Urticarial plaque, Striae distensae, Erythematous plaque, Increased body wei... ORPHA:64745
Dowling-Degos Disease
Hyperkeratotic papule, Palmar pits, Erythematous papule, Epidermoid cyst, Hyperpigmented papule, ... ORPHA:79145
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi... OMIM:617297
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia OMIM:614832
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Hypomature dental enamel, Amelogenesis imperfecta, Enamel hypomineralization OMIM:613211
Ectodermal Dysplasia/Short Stature Syndrome
Palmoplantar keratoderma, Delayed eruption of teeth, Hypodontia, Enamel hypoplasia, Hyperkeratosi... OMIM:616029
Lichen Planus Pemphigoides
Abnormal oral mucosa morphology, Skin vesicle, Hyperkeratosis ORPHA:254478
Late-Onset Junctional Epidermolysis Bullosa
Localized skin lesion, Carious teeth, Enamel hypoplasia, Oral mucosal blisters ORPHA:79406
Otodental Dysplasia
Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Pulp calcification, ... OMIM:166750
Ectodermal Dysplasia-Syndactyly Syndrome 2
Thin upper lip vermilion, Follicular hyperkeratosis, Palmoplantar keratoderma, Enamel hypoplasia OMIM:613576
Pemphigus Foliaceus
Abnormal oral mucosa morphology, Erythema, Skin erosion, Erythematous plaque, Oral ulcer, Skin ve... ORPHA:79481
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo... OMIM:616221
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ... ORPHA:49042
Amelogenesis Imperfecta, Type Ik
Amelogenesis imperfecta, Enamel hypoplasia OMIM:620104
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Oligodontia
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... ORPHA:99798
Iga Pemphigus
Annular cutaneous lesion, Skin erosion, Oral mucosal blisters, Skin vesicle, Skin plaque, Acantho... ORPHA:555905
Amelo-Onycho-Hypohidrotic Syndrome
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal dent... ORPHA:1028
Dermatitis Herpetiformis
Dental enamel pits, Erythema, Delayed eruption of teeth, Erosion of oral mucosa, Skin vesicle, Ma... ORPHA:1656
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Carious teeth, Milia, Increased connective tissue, Scarring alopecia of scalp, Palmoplantar hyper... OMIM:226670
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... OMIM:301200
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Parakeratosis, Skin vesicle, Erythema migrans ORPHA:158681
Pemphigoid Gestationis
Skin vesicle, Failure to thrive ORPHA:63275
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Amelogenesis imperfecta, Enamel hypoplasia OMIM:616270
Amelogenesis Imperfecta, Type Iv
Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia OMIM:104510
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Abnormal dental enamel morphology, Dermal atrophy, Skin vesicle, Aplasia/Hypoplasia of the skin, ... ORPHA:257
Localized Junctional Epidermolysis Bullosa
Dental enamel pits, Atypical scarring of skin, Milia, Scarring alopecia of scalp, Enamel hypoplas... ORPHA:251393
Dental Ankylosis
Abnormal dental enamel morphology, Mandibular prognathia, Tooth agenesis ORPHA:1077
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Carious teeth, Palmoplantar hyperkeratosis, Thick vermilion border, Enamel hypoplasia ORPHA:363523
Epidermolysis Bullosa, Junctional 4, Intermediate
Dental enamel pits, Scarring alopecia of scalp, Carious teeth, Macular hyperpigmented dermopathy OMIM:619787
Hypotrichosis And Recurrent Skin Vesicles
Abnormality of the dentition, Angular cheilitis, Follicular hyperkeratosis, Skin vesicle OMIM:613102
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus... OMIM:125500
Ramon Syndrome
Delayed eruption of teeth, Failure to thrive, Abnormal dental enamel morphology, Narrow palate, G... ORPHA:3019
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Microretrognathia, Tooth agenesis, Obesity, Micrognathia, Inguinal hernia, Hip con... OMIM:618363
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Naegeli-Franceschetti-Jadassohn Syndrome
Abnormality of the dentition, Subungual hyperkeratosis, Carious teeth, Yellow-brown discoloration... ORPHA:69087
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Abnormal dental enamel morphology, Supernumerary tooth, Enamel hypoplasia ORPHA:3196
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i... OMIM:204700
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia ORPHA:2871
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Hall-Riggs Syndrome
Failure to thrive, Thick lower lip vermilion, Hypoplasia of the primary teeth, Enamel hypoplasia,... OMIM:234250
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Atrophic scars, Milia, Congenital pyloric atresia, Oral mucosal blisters, Enamel hypoplasia, Esop... OMIM:226730
Dentin Dysplasia
Abnormal dental enamel morphology, Abnormal dental morphology ORPHA:1653
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
High palate, Enamel hypoplasia, Retrognathia OMIM:617915
Pyoderma Gangrenosum
Inflammation of the large intestine, Skin ulcer, Atrophic scars, Skin vesicle, Papule ORPHA:48104
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Carious teeth, Palmoplantar keratoderma, Facial erythema, Scarring alopecia of scalp, Enamel hypo... OMIM:612843
Wells Syndrome
Cellulitis, Skin vesicle ORPHA:901
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp... OMIM:204650
Erythema Elevatum Diutinum
Skin nodule, Skin vesicle ORPHA:90000
17Q11.2 Microduplication Syndrome
Abnormal dental enamel morphology, Enamel hypoplasia, Malar flattening, Thin vermilion border ORPHA:139474
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Cellulitis, Abnormality of the dentition, Delayed eruption of teeth, Skin ulcer, Skin vesicle, Gi... ORPHA:2314
Florid Cemento-Osseous Dysplasia
Abnormal cementum morphology, Periapical bone loss, Mandibular osteomyelitis, Dental malocclusion... ORPHA:83451
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:618386
Ectodermal Dysplasia-Syndactyly Syndrome 1
Conical tooth, Enamel hypoplasia, Palmar hyperkeratosis, Widely spaced teeth OMIM:613573
Dyskeratosis Congenita
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Palmoplantar keratoderma,... ORPHA:1775
Sjögren-Larsson Syndrome
Abnormal dental enamel morphology, Erythema, Hyperkeratosis, Dry skin ORPHA:816
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Esophageal stricture, Atrophic scars, Corneal scarring, Milia, Narrow mouth, Oral mucosal blister... OMIM:226600
Kohlschutter-Tonz Syndrome
Amelogenesis imperfecta, Enamel hypoplasia OMIM:226750
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism
Flexion contracture, Carious teeth, Generalized hypoplasia of dental enamel OMIM:203550
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Abnormal dental morphology, Hypoplasia of teeth, Premature loss of primary teeth, Dry skin ORPHA:248
Mulibrey Nanism
Microglossia, Dental malocclusion, Dental crowding, Nevus flammeus, Absent frontal sinuses, Hypod... OMIM:253250
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth OMIM:615887
Acute Generalized Exanthematous Pustulosis
Skin vesicle, Scaling skin, Acantholysis, Cheilitis, Purpura ORPHA:293173
48,Xyyy Syndrome
Long philtrum, Thick lower lip vermilion, Enamel hypoplasia, Irregularly spaced teeth, High palate ORPHA:99329
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Failure to thrive, Retrognathia, Dry skin, Enamel hypoplasia... OMIM:614576
Hennekam-Beemer Syndrome
Erythema, Failure to thrive, Thick lower lip vermilion, Camptodactyly of finger, Micrognathia, Sk... ORPHA:2135
Pseudopseudohypoparathyroidism
Obesity, Enamel hypoplasia, Delayed eruption of teeth OMIM:612463
Heimler Syndrome 1
Amelogenesis imperfecta, Enamel hypoplasia OMIM:234580
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition OMIM:125440
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Delayed eruption of teeth, Tooth agenesis, Abnormal dental enamel morphology, Short philtrum, Man... ORPHA:2325
Rapp-Hodgkin Syndrome
Bifid uvula, Hypoplasia of the maxilla, Carious teeth, Palmoplantar keratoderma, Velopharyngeal i... OMIM:129400
Otodental Syndrome
Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Periodontitis, Abnormal mo... ORPHA:2791
Stimmler Syndrome
Abnormal dental enamel morphology, Microdontia ORPHA:3199
Porphyria Variegata
Localized skin lesion, Skin erosion, Milia, Ileus, Skin vesicle, Scarring, Hepatocellular carcinoma ORPHA:79473
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Orthokeratosis, Dry skin, Oligodontia, Parakeratosis, Hypodontia, Enamel hypoplasia OMIM:607626
Pachyonychia Congenita
Cutaneous cyst, Palmoplantar keratoderma, Failure to thrive, Oral leukoplakia, Natal tooth, Epide... ORPHA:2309
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Absent cupid's bow, Cleft soft palate, Median cleft upper lip, ... ORPHA:2919
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Downturned corners of mouth ORPHA:2643
Seckel Syndrome 5
Retrognathia, Selective tooth agenesis, Micrognathia, Oligodontia, Hypodontia, Enamel hypoplasia,... OMIM:613823
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Failure to thrive, Ankyloglossia, Malar flattening, Bilateral cleft palate, Thin upper lip vermil... OMIM:618874
Braddock-Carey Syndrome 1
Anteriorly placed anus, Enamel hypoplasia, Everted lower lip vermilion, Thick vermilion border, C... OMIM:619980
Cockayne Syndrome Type 2
Widely spaced primary teeth, Hypoplasia of the primary teeth, Delayed eruption of primary teeth, ... ORPHA:90322
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Flexion contracture, Congenital pyloric atresia, Aplasia cutis congenita, Neonatal death OMIM:612138
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Ileal atresia, Colonic atresia, Intestinal malrotation, Intestinal obstruction, Jej... OMIM:243150
Leukocyte Adhesion Deficiency Type Ii
Failure to thrive, Umbilical hernia, Gingival overgrowth, Protruding tongue, Recurrent gastroente... ORPHA:99843
Galloway-Mowat Syndrome 8
Enamel hypoplasia OMIM:618349
Blepharophimosis-Impaired Intellectual Development Syndrome
Gastroesophageal reflux, Dental malocclusion, Widely spaced teeth, Wide mouth, Exaggerated cupid'... OMIM:619293
Sjogren-Larsson Syndrome
Flexion contracture, Enamel hypoplasia OMIM:270200
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Aplasia cutis congenita of scalp, Congenital pyloric atresia, Neonatal death, Oral mucosal bliste... OMIM:619817
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Widely spaced teeth, Periapical tooth abscess, Enamel hypomineralization, Mic... ORPHA:3352
Snijders Blok-Campeau Syndrome
Widely spaced teeth, Umbilical hernia, Inguinal hernia, Taurodontia, Enamel hypoplasia, High palate OMIM:618205
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:125490
Den Hoed-De Boer-Voisin Syndrome
Gastroesophageal reflux, Carious teeth, Yellow-brown discoloration of the teeth, Delayed eruption... OMIM:619229
Cenani-Lenz Syndactyly Syndrome
Micrognathia, Malar flattening, Hypodontia, Enamel hypoplasia, Premature loss of permanent teeth OMIM:212780
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Erythema, Palmoplantar keratoderma, Failure to thrive, Smooth tongue, Atrophic scars, Milia, Oral... ORPHA:79396
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Malar flattening, Hypodontia, Alveolar pro... ORPHA:2972
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Dentinogenesis imperfecta, Short philtrum, Delayed eruption of teeth ORPHA:71267
Bone Marrow Failure Syndrome 3
Failure to thrive, Downturned corners of mouth, Micrognathia, Oral ulcer, Microdontia, Hernia, Hy... OMIM:617052
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Amelogenesis imperfecta, Enamel hypoplasia, Skin ulcer OMIM:245660
Sweet Syndrome
Inflammation of the large intestine, Erythematous papule, Skin nodule, Erythematous plaque, Skin ... ORPHA:3243
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Hyperpigmented papule, Preauricular pit, Camptodactyly, Flexion contracture, Hypoplasia of teeth,... ORPHA:88630
Dental Anomalies And Short Stature
Hypoplasia of the maxilla, Widely spaced teeth, Oligodontia, Microdontia, Amelogenesis imperfecta... OMIM:601216
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Conical incisor, Carious teeth, Enamel hypoplasia OMIM:614564
Congenital Disorder Of Glycosylation, Type Iik
Amelogenesis imperfecta, Malar flattening, Failure to thrive OMIM:614727
Pycnodysostosis
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Dental malocclusion, Pers... ORPHA:763
Amelocerebrohypohidrotic Syndrome
Abnormal dental enamel morphology, Abnormality of dental color, Amelogenesis imperfecta, Yellow-b... ORPHA:1946
Andersen Cardiodysrhythmic Periodic Paralysis
Hypoplasia of the maxilla, Dental crowding, Persistence of primary teeth, Micrognathia, Preauricu... OMIM:170390
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Conical tooth, Dental malocclusion, Persistence of primary teeth, Malar flattening, Oligodontia, ... OMIM:618727
Acrootoocular Syndrome
High, narrow palate, Dental malocclusion, Failure to thrive, Delayed eruption of teeth, Micrognat... ORPHA:2980
Chronic Mucocutaneous Candidiasis
Erythema, Papule, Skin ulcer, Abnormal lip morphology, Abnormal dental enamel morphology, Cheilit... ORPHA:1334
Jalili Syndrome
Abnormal dental enamel morphology, Abnormality of dental color, Amelogenesis imperfecta ORPHA:1873
Oculoskeletodental Syndrome
Abnormality of the dentition, Retrognathia, Microdontia, Oligodontia, Enamel hypoplasia ORPHA:557003
Scarf Syndrome
Long philtrum, Umbilical hernia, Inguinal hernia, Cutis laxa, Enamel hypoplasia, Hypocalcificatio... ORPHA:3134
Costello Syndrome
Abnormality of the dentition, Gastroesophageal reflux, Thick lower lip vermilion, Failure to thri... ORPHA:3071
Kindler Epidermolysis Bullosa
Erythema, Inflammation of the large intestine, Carious teeth, Palmoplantar keratoderma, Periodont... ORPHA:2908
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Hypodontia, Palmoplantar keratoderma, Delayed eruption of teeth, Shagreen patch ORPHA:1816
Xfe Progeroid Syndrome
Failure to thrive, Dry skin, Corneal scarring, Dermal atrophy, Absence of subcutaneous fat, Cache... OMIM:610965
Arthrogryposis And Ectodermal Dysplasia
Atypical scarring of skin, Joint contracture of the hand, Arthrogryposis multiplex congenita, Cle... OMIM:601701
Splenogonadal Fusion With Limb Defects And Micrognathia
Multiple unerupted teeth, Micrognathia, Crowded maxillary incisors, Stillbirth OMIM:183300
48,Xxyy Syndrome
Broad jaw, Carious teeth, Gastroesophageal reflux, Delayed eruption of teeth, Thick lower lip ver... ORPHA:10
Trichodental Dysplasia
Hypodontia, Conical tooth, Odontodysplasia OMIM:601453
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Dental crowding, Oral-pharyngeal dysphagia, Misalignment of incisors, Oligodontia, Hypodontia, En... OMIM:619184
Cockayne Syndrome Type 1
Abnormality of the dentition, Foot joint contracture, Failure to thrive, Widely spaced primary te... ORPHA:90321
Epidermolysis Bullosa, Lethal Acantholytic
Skin erosion, Natal tooth, Neonatal death, Aplasia cutis congenita, Acantholysis OMIM:609638
Acrokeratosis Verruciformis
Verrucous papule, Acrokeratosis, Punctate palmoplantar hyperkeratosis, Acantholysis, Hyperkeratosis OMIM:101900
Aredyld Syndrome
Craniofacial hyperostosis, Mandibular prognathia, Abnormal dental enamel morphology, Narrow mouth... ORPHA:1133
Cranioectodermal Dysplasia
Abnormality of the dentition, Abnormal dental enamel morphology, Microdontia, Taurodontia, Hypodo... ORPHA:1515
Lacrimoauriculodentodigital Syndrome 3
Enamel hypoplasia, Carious teeth, Xerostomia, Widely spaced teeth OMIM:620193
Pseudohypoparathyroidism, Type Ic
Obesity, Enamel hypoplasia, Delayed eruption of teeth OMIM:612462
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Gastroesophageal reflux, Retrognathia, Long philtrum, Obesity, Micrognathia, Narrow mouth, Wide m... OMIM:620250
Junctional Epidermolysis Bullosa With Pyloric Atresia
Congenital pyloric atresia, Oral mucosal blisters, Enamel hypoplasia, Intestinal atresia, Aplasia... ORPHA:79403
Vitamin D-Dependent Rickets, Type 2A
Delayed eruption of teeth, Carious teeth, Enamel hypoplasia, Failure to thrive OMIM:277440
Pili Torti
Abnormal dental enamel morphology, Abnormality of the dentition ORPHA:2889
Seckel Syndrome 1
Dental malocclusion, Dental crowding, Selective tooth agenesis, Elbow flexion contracture, Microg... OMIM:210600
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Bifid uvula, Abnormality of the dentition, Failure to thrive, Enamel hypoplasia, Wide mouth OMIM:615802
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:605594
Heimler Syndrome 2
Amelogenesis imperfecta, Dental crowding OMIM:616617
Pemphigus Erythematosus
Localized skin lesion, Skin erosion, Hypopigmented skin patches, Focal dermal aplasia/hypoplasia,... ORPHA:79480
Pseudohypoparathyroidism, Type Ia
Obesity, Enamel hypoplasia, Delayed eruption of teeth OMIM:103580
Chronic Graft Versus Host Disease
Erythema, Gastroesophageal reflux, Xerostomia, Skin ulcer, Fasciitis, Abnormal esophagus physiolo... ORPHA:99921
Microcephalic Primordial Dwarfism, Montreal Type
Carious teeth, Open bite, Dry skin, Congenital pyloric atresia, Micrognathia, Abnormal palate mor... ORPHA:2617
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Abnormal dental enamel morphology, Hypodontia, Scarring alopecia of scalp, Oligodontia ORPHA:59303
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Oral-pharyngeal dys... ORPHA:199306
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Hypodontia, Amelogenesis imperfecta, Delayed eruption of teeth OMIM:615905
Pili Torti, Early-Onset
Enamel hypoplasia OMIM:261900
Raine Syndrome
Mandibular prognathia, Natal tooth, Micrognathia, Narrow mouth, Protruding tongue, Malar flatteni... OMIM:259775
Hamamy Syndrome
Preauricular skin tag, Dental malocclusion, Long philtrum, Micrognathia, Inguinal hernia, Thin up... OMIM:611174
Celiac Disease, Susceptibility To, 1
Failure to thrive, Recurrent aphthous stomatitis, Weight loss, Enamel hypoplasia, Steatorrhea, Ce... OMIM:212750
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormality of the dentition, Carious teeth, Hypoplasia of the zygomatic bone, Cleft upper lip, A... ORPHA:3253
Usher Syndrome Type 1
Abnormal dental enamel morphology ORPHA:231169
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed eruption of teeth, Enamel hypoplasia, Failure to thrive OMIM:264700
Qazi-Markouizos Syndrome
High, narrow palate, Hypoplasia of teeth, Open mouth, Broad philtrum ORPHA:3010
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, Obesity, Malar flattening, High palate, Mandibular prognathia ORPHA:2180
Darier-White Disease
Palmar pits, Plantar pits, Enlargement of parotid gland, Subungual hyperkeratotic fragments, Acro... OMIM:124200
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Downturned corners of mouth, Long philtrum, Micrognathia, Narrow mouth, Dorsocervical fat pad, De... ORPHA:391408
Osteogenesis Imperfecta, Type Xii
Dentinogenesis imperfecta, Delayed eruption of teeth, Micrognathia, Narrow mouth, High palate OMIM:613849
Short Syndrome
Abnormality of the dentition, Abnormal mandible morphology, Abnormal dental enamel morphology, Ma... ORPHA:3163
Pseudohypoaldosteronism Type 2
Abnormal dental enamel morphology, Abnormality of the dentition ORPHA:757
Hall-Riggs Syndrome
Delayed eruption of teeth, Failure to thrive, Downturned corners of mouth, Abnormal dental enamel... ORPHA:2107
Oculodentodigital Dysplasia, Autosomal Recessive
Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Dental malocclusio... OMIM:257850
Lenz-Majewski Hyperostotic Dwarfism
Abnormality of the dentition, Microglossia, Failure to thrive, Anteriorly placed anus, Elbow flex... OMIM:151050
Corneodermatoosseous Syndrome
Erythema, Carious teeth, Palmoplantar keratoderma, Abnormal dental enamel morphology, Gingivitis ORPHA:3194
Specific Granule Deficiency 2
Amelogenesis imperfecta, Tooth malposition, Conical tooth, Failure to thrive OMIM:617475
Mandibuloacral Dysplasia
Increased subcutaneous truncal adipose tissue, Dental crowding, Contractures of the large joints,... ORPHA:2457
Kilquist Syndrome
Mandibular prognathia, Gastroesophageal reflux, Xerostomia, Intestinal malrotation, Midgut malrot... OMIM:619080
Orofaciodigital Syndrome I
Carious teeth, Microretrognathia, Cleft upper lip, Hamartoma of tongue, Ankyloglossia, Agenesis o... OMIM:311200
Brittle Cornea Syndrome 1
Dentinogenesis imperfecta, Atypical scarring of skin, Molluscoid pseudotumors, Palmoplantar cutis... OMIM:229200
Herpes Simplex Virus Stromal Keratitis
Herpetiform vesicles ORPHA:137599
Pachyonychia Congenita 2
Subungual hyperkeratosis, Natal tooth, Oral leukoplakia, Epidermoid cyst, Angular cheilitis, Palm... OMIM:167210
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Hyperkeratosis ORPHA:281090
Odontochondrodysplasia
Dentinogenesis imperfecta, Delayed eruption of teeth, Retrognathia ORPHA:166272
Mandibuloacral Dysplasia With Type B Lipodystrophy
Dental crowding, Generalized lipodystrophy, Dermal atrophy, Micrognathia, Narrow mouth, Decreased... OMIM:608612
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Subungual hyperkeratosis, Natal tooth, Orthokeratosis, Scarring alopecia of scalp, Short philtrum... OMIM:617337
Failure Of Tooth Eruption, Primary
Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth OMIM:125350
Dysosteosclerosis
Abnormal dental enamel morphology, Craniofacial hyperostosis, Delayed eruption of teeth, Aplasia/... ORPHA:1782
Pseudohypoparathyroidism Type 1B
Enamel hypoplasia, Delayed eruption of teeth ORPHA:94089
Ohdo Syndrome
Long philtrum, Widely spaced teeth, Micrognathia, Narrow mouth, Smooth philtrum, Thin vermilion b... OMIM:249620
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Dentinogenesis imperfecta ORPHA:166277
Acrocallosal Syndrome
Everted upper lip vermilion, Narrow mouth, Protruding tongue, Open mouth, Alveolar process hypopl... OMIM:200990
Usher Syndrome Type 2
Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology, Microdontia ORPHA:231178
Scarf Syndrome
Long philtrum, Umbilical hernia, Inguinal hernia, Cutis laxa, Enamel hypoplasia OMIM:312830
Rothmund-Thomson Syndrome
Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Selective tooth agenesis,... ORPHA:2909
Oculodentodigital Dysplasia
Carious teeth, Selective tooth agenesis, Cleft upper lip, Joint contracture of the 5th finger, Mi... OMIM:164200
Fused Mandibular Incisors
Abnormality of the dentition, Advanced eruption of teeth ORPHA:2287
Craniolenticulosutural Dysplasia
Hypoplasia of the maxilla, Carious teeth, Delayed eruption of teeth, Long philtrum, Wide mouth, M... ORPHA:50814
48,Xxxy Syndrome
Carious teeth, Gastroesophageal reflux, Delayed eruption of teeth, Open bite, Abnormal dental ena... ORPHA:96263
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Taurodontia, Pulp calcification, Enamel hypoplasia OMIM:211900
Polyposis of gastric fundus without polyposis coli
Multiple gastric polyps, Abnormal gastric mucosa morphology OMIM:175505
Jalili Syndrome
Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis OMIM:217080
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Retrognathia, Microdontia, Enamel hypoplasia, Truncal obesity, Cafe-au-lait spot OMIM:210720
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Enamel hypomineralization ORPHA:494444
Cockayne Syndrome A
Atypical scarring of skin, Carious teeth, Dental malocclusion, Failure to thrive, Dry skin, Loss ... OMIM:216400
Focal Dermal Hypoplasia
Erythema, Open bite, Dermal atrophy, Congenital diaphragmatic hernia, Hernia, Subcutaneous nodule... ORPHA:2092
Chikungunya
Gingival bleeding, Erythema, Petechiae, Skin vesicle, Macule, Enthesitis ORPHA:324625
Cleidocranial Dysplasia 1
High, narrow palate, Absent paranasal sinuses, Micrognathia, Hypoplastic frontal sinuses, Malar f... OMIM:119600
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Developmental And Epileptic Encephalopathy 100
Gastroesophageal reflux, Elbow flexion contracture, Micrognathia, Gingival overgrowth, Protruding... OMIM:619777
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Conical tooth, Palmoplantar keratoderma, Delayed eruption of teeth, Widely spaced teeth, Abnormal... ORPHA:1071
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Abnormal dental enamel morphology, Abnormal palate morphology ORPHA:3236
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Enamel hypoplasia OMIM:240300
Koolen-De Vries Syndrome
High, narrow palate, Abnormality of the dentition, Abnormal dental enamel morphology, Dry skin, M... ORPHA:96169
Familial Isolated Hypoparathyroidism
Abnormal dental enamel morphology, Delayed eruption of teeth ORPHA:2238
Treacher-Collins Syndrome
Open bite, Micrognathia, Narrow mouth, High palate, Rectovaginal fistula, Hypoplasia of the maxil... ORPHA:861
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypoplasia of teeth, Carious teeth OMIM:613312
Hypocalcemic Vitamin D-Dependent Rickets
Delayed eruption of teeth, Enamel hypoplasia, Failure to thrive ORPHA:289157
Osteogenesis Imperfecta, Type Ix
Dentinogenesis imperfecta OMIM:259440
Cleidocranial Dysplasia
High, narrow palate, Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Hypo... ORPHA:1452
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Retrognathia, Hypoplasia of the zygomatic bone, Abnormal dental enamel morphology, Dry skin, Ingu... ORPHA:1812
Osteogenesis Imperfecta, Type V
Dentinogenesis imperfecta OMIM:610967
Osteogenesis Imperfecta, Type Xix
Dentinogenesis imperfecta OMIM:301014
Trichothiodystrophy
High, narrow palate, Carious teeth, Retrognathia, Umbilical hernia, Dry skin, Absence of subcutan... ORPHA:33364
Temtamy Syndrome
Hypoplasia of teeth, Micrognathia, Dental crowding, Long philtrum OMIM:218340
Pde4D Haploinsufficiency Syndrome
Hypoplasia of the maxilla, Long philtrum, Abnormal dental enamel morphology, Obesity, Micrognathi... ORPHA:439822
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Dental malocclusion, Long philtrum, Micrognathia, Orthokeratotic hyperkeratosis, Conical incisor,... ORPHA:73223
Dysostosis, Stanescu Type
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of the zygomat... ORPHA:1798
Familial Adenomatous Polyposis
Localized skin lesion, Stomach cancer, Hepatoblastoma, Desmoid tumors, Colorectal polyposis, Abno... ORPHA:733
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Rothmund-Thomson Syndrome Type 2
Abnormality of the dentition, Erythema, Carious teeth, Delayed eruption of teeth, Tooth agenesis,... ORPHA:221016
Codas Syndrome
Gastroesophageal reflux, Delayed eruption of teeth, Enamel hypoplasia, Omphalocele, Anal atresia,... OMIM:600373
Knobloch Syndrome 2
Micrognathia, Enamel hypoplasia, Pyloric stenosis OMIM:618458
Eec Syndrome
Carious teeth, Xerostomia, Nevus, Tooth agenesis, Abnormal dental enamel morphology, Dry skin, Mi... ORPHA:1896
Rothmund-Thomson Syndrome Type 1
Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal ... ORPHA:221008
Codas Syndrome
Abnormal dental enamel morphology, Abnormal dental morphology, Delayed eruption of teeth ORPHA:1458
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Abnormal dental enamel morphology, Hyperkeratosis ORPHA:1005
49,Xxxxy Syndrome
Carious teeth, Gastroesophageal reflux, Delayed eruption of teeth, Open bite, Abnormal dental ena... ORPHA:96264
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Abnormal dental enamel morphology, Melanocytic nevus, Weight loss, H... ORPHA:79430
Osteogenesis Imperfecta, Type Xxii
Dentinogenesis imperfecta OMIM:619795
Rubinstein-Taybi Syndrome 1
Micrognathia, Narrow mouth, High palate, High, narrow palate, Hypoplasia of the maxilla, Gastroes... OMIM:180849
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Preauricular skin tag, Dental crowding, Retrognathia, Long philtrum, Umbilical hernia, Dry skin, ... OMIM:620654
Incontinentia Pigmenti
Erythema, Delayed eruption of teeth, Hypopigmented skin patches, Camptodactyly of finger, Umbilic... ORPHA:464
Severe Generalized Junctional Epidermolysis Bullosa
Abnormal oral mucosa morphology, Skin erosion, Failure to thrive, Erosion of oral mucosa, Enamel ... ORPHA:79404
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Gastroesophageal reflux, Velopharyngeal insufficiency, Long philtrum, Intestinal malrotation, Sub... OMIM:614701
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal dental enamel morphology, Macrodontia, Hypodontia, Vaginal hernia, Mandibular prognathia... ORPHA:2916
Pseudohypoparathyroidism Type 1C
Osteoma cutis, Obesity, Enamel hypoplasia, Delayed eruption of teeth ORPHA:79444
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, Delayed eruption of teeth, Anteriorly placed anus, Agenesis of permanent t... OMIM:268400
Nail-Patella Syndrome
Elbow flexion contracture, Contracture of the distal interphalangeal joint of the fingers, Abnorm... ORPHA:2614
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Erythema, Dry skin, Cleft soft palate, Micrognathia, Narrow mouth, Hip contracture, Reduced subcu... OMIM:619503
Amelogenesis Imperfecta, Type Ig
Dagger-shaped pulp calcifications, Gingival overgrowth, Amelogenesis imperfecta, Gingival fibroma... OMIM:204690
Odontochondrodysplasia 1
Dentinogenesis imperfecta, Delayed eruption of teeth, Long philtrum OMIM:184260
Immunodeficiency 9
Recurrent aphthous stomatitis, Amelogenesis imperfecta, Stomatitis, Failure to thrive OMIM:612782
Osteogenesis Imperfecta, Type Xiii
Dentinogenesis imperfecta, Long philtrum, Umbilical hernia, Decreased body weight, Thin vermilion... OMIM:614856
Craniolenticulosutural Dysplasia
Bifid uvula, Carious teeth, Gastroesophageal reflux, Delayed eruption of teeth, Long philtrum, Wi... OMIM:607812
Serrated Polyposis Syndrome
Biliary tract neoplasm, Neoplasm of the large intestine, Gastric diverticulum, Adenomatous coloni... ORPHA:157798
Oculodentodigital Dysplasia
Broad alveolar ridges, Carious teeth, Palmoplantar keratoderma, Camptodactyly of finger, Umbilica... ORPHA:2710
Cockayne Syndrome
Carious teeth, Gastroesophageal reflux, Congenital contracture, Dental malocclusion, Contractures... ORPHA:191
Mucopolysaccharidosis Type 4
Abnormality of the dentition, Carious teeth, Abnormal dental enamel morphology, Grayish enamel, H... ORPHA:582
Mandibuloacral Dysplasia With Type A Lipodystrophy
Dental crowding, Increased adipose tissue around the neck, Increased facial adipose tissue, Elbow... OMIM:248370
Sanjad-Sakati Syndrome
Abnormality of the dentition, Long philtrum, Abnormal dental enamel morphology, Micrognathia, Int... ORPHA:2323
Spondylocarpotarsal Synostosis Syndrome
Preauricular skin tag, Failure of eruption of permanent teeth, Inguinal hernia, Enamel hypoplasia... OMIM:272460
Enamel-Renal Syndrome
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Abnormal dental enamel morpho... ORPHA:1031
Familial Adenomatous Polyposis 1
Carious teeth, Keloids, Eruption failure, Epidermoid cyst, Duodenal adenocarcinoma, Duodenal poly... OMIM:175100
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Hypoplasia of teeth, Widely spaced teeth, Cleft palate, Microdontia ORPHA:2728
Ménétrier Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Abnormal gastric mucosa mor... ORPHA:2494
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Abnormal dental enamel morphology, Abnormal dental morphology, Micrognathia, Malar flattening, Ab... ORPHA:85199
Cenani-Lenz Syndrome
High, narrow palate, Abnormal dental enamel morphology, Malar flattening, Hypodontia, Short philtrum ORPHA:3258
Cranioectodermal Dysplasia 3
Widely spaced teeth, Dry skin, Micrognathia, Cutis laxa, Everted lower lip vermilion, Hypoplasia ... OMIM:614099
Cole-Carpenter Syndrome 2
Dentinogenesis imperfecta, High palate, Microretrognathia OMIM:616294
Orofaciodigital Syndrome Type 2
Natal tooth, Velopharyngeal insufficiency, Hamartoma of tongue, Peg-shaped maxillary lateral inci... ORPHA:2751
Orofaciodigital Syndrome Type 1
Abnormality of the dentition, Odontogenic neoplasm, Broad alveolar ridges, Lip pit, Hypoplasia of... ORPHA:2750
Cranioectodermal Dysplasia 1
High, narrow palate, Widely spaced teeth, Inguinal hernia, Anodontia, Microdontia, Hypodontia, En... OMIM:218330
Pseudohypoparathyroidism Type 1A
Osteoma cutis, Obesity, Enamel hypoplasia, Delayed eruption of teeth ORPHA:79443
Congenital Disorder Of Glycosylation, Type Iim
Gastroesophageal reflux, Open mouth, Exaggerated cupid's bow, Short philtrum, Fused teeth, Enamel... OMIM:300896
Focal Dermal Hypoplasia
Dental malocclusion, Delayed eruption of teeth, Anteriorly placed anus, Cleft upper lip, Intestin... OMIM:305600
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Dentinogenesis imperfecta, Periodontitis, Retrognathia, Obesity, Delayed eruption of permanent te... OMIM:619269
Systemic Sclerosis
Barrett esophagus, Intestinal bleeding, Abnormal large intestine morphology, Gastroesophageal ref... ORPHA:90291
Cole-Carpenter Syndrome
Abnormal dental enamel morphology, Micrognathia, Delayed eruption of teeth ORPHA:2050
Cole-Carpenter Syndrome 1
Dentinogenesis imperfecta, Micrognathia, Microdontia OMIM:112240
Cockayne Syndrome B
Atypical scarring of skin, Carious teeth, Dental malocclusion, Failure to thrive, Dry skin, Derma... OMIM:133540
Seckel Syndrome
Abnormal dental enamel morphology, Cachexia, Micrognathia, Tooth agenesis ORPHA:808
Osteogenesis Imperfecta, Type Iii
Dentinogenesis imperfecta, Micrognathia OMIM:259420
Lacrimoauriculodentodigital Syndrome
Bifid uvula, Abnormality of the dentition, Carious teeth, Xerostomia, Abnormal dental enamel morp... ORPHA:2363
Usher Syndrome
Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology, Microdontia ORPHA:886
Gardner Syndrome
Abnormality of the dentition, Gastrointestinal carcinoma, Keloids, Lipoma, Epidermoid cyst, Adeno... ORPHA:79665
Oculogastrointestinal Muscular Dystrophy
Intestinal pseudo-obstruction, Abnormal gastric mucosa morphology, Cachexia, Abnormality of the g... ORPHA:1876
3M Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Everted lower lip vermilion, Long p... ORPHA:2616
Alpha-1-Antitrypsin Deficiency
Gastric varix, Hepatocellular carcinoma OMIM:613490
Oculocerebrorenal Syndrome Of Lowe
Carious teeth, Periodontitis, Open bite, Micrognathia, Open mouth, Everted lower lip vermilion, A... ORPHA:534
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Taurodontia, Abnormality of the dentition, Abnormal dental enamel morphology, Camptodactyly of fi... ORPHA:3220
Trichodermodysplasia-Dental Alterations Syndrome
Palmoplantar keratoderma, Delayed eruption of teeth, Tooth agenesis, Abnormal dental morphology, ... ORPHA:3353
Branchioskeletogenital Syndrome
Bifid uvula, Hypoplasia of the maxilla, Carious teeth, Abnormality of the dentition, Downturned c... ORPHA:1299
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Bifid uvula, Hypoplasia of the tooth germ, Micrognathia, Contracture of the proximal interphalang... ORPHA:293967
Osteogenesis Imperfecta, Type X
Dentinogenesis imperfecta, Micrognathia, Malar flattening, Inguinal hernia, Pyloric stenosis OMIM:613848
Cockayne Syndrome Type 3
Carious teeth, Flexion contracture, Gastroesophageal reflux, Enamel hypoplasia ORPHA:90324
Mucopolysaccharidosis, Type Iva
Mandibular prognathia, Carious teeth, Widely spaced teeth, Grayish enamel, Inguinal hernia, Wide ... OMIM:253000
Turnpenny-Fry Syndrome
Abnormality of the dentition, Gastroesophageal reflux, Dental malocclusion, Failure to thrive, Do... OMIM:618371
Osteogenesis Imperfecta, Type Vi
Dentinogenesis imperfecta OMIM:613982
Trichothiodystrophy 4, Nonphotosensitive
Hypoplasia of teeth, Retrognathia OMIM:234050
Lowe Oculocerebrorenal Syndrome
Joint contracture of the hand, Keloids, Failure to thrive, Camptodactyly of finger, Corneal scarr... OMIM:309000
Tuberous Sclerosis 1
Dental enamel pits, Hypomelanotic macule, Subcutaneous nodule, Gingival fibromatosis, Cafe-au-lai... OMIM:191100
Combined Immunodeficiency Due To Crac Channel Dysfunction
Amelogenesis imperfecta, Hypocalcification of dental enamel ORPHA:169090
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Obesity ORPHA:251004
Microphthalmia With Linear Skin Defects Syndrome
Erythema, Failure to thrive, Retrognathia, Hypopigmented skin patches, Abnormal dental enamel mor... ORPHA:2556
Mucopolysaccharidosis, Type Ivb
Mandibular prognathia, Carious teeth, Widely spaced teeth, Grayish enamel, Inguinal hernia, Wide ... OMIM:253010
Osteogenesis Imperfecta, Type I
Dentinogenesis imperfecta, Thin skin OMIM:166200
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Dentinogenesis imperfecta, Carious teeth, Long philtrum, Atrophic scars, Micrognathia, Multiple j... ORPHA:536467
Lenz-Majewski Hyperostotic Dwarfism
High, narrow palate, Bifid uvula, Mandibular prognathia, Facial hyperostosis, Abnormal dental ena... ORPHA:2658
Epidermolysis Bullosa Simplex With Pyloric Atresia
Aplasia cutis congenita of scalp, Skin erosion, Atrophic scars, Milia, Congenital pyloric atresia... ORPHA:158684
Osteogenesis Imperfecta, Type Xi
Dentinogenesis imperfecta OMIM:610968
Hypomagnesemia 3, Renal
Amelogenesis imperfecta, Enamel hypoplasia, Failure to thrive, Hypomature enamel OMIM:248250
Ramon Syndrome
Delayed eruption of teeth, Decreased body weight, Narrow palate, Gingival fibromatosis, Hyperkera... OMIM:266270
22Q11.2 Deletion Syndrome
Carious teeth, Hypopigmented skin patches, Micrognathia, Narrow mouth, Anal atresia, Purpura, Gas... ORPHA:567
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Stercoral ulcer, Abnormal gastric muc... ORPHA:263665
Stickler Syndrome
Bifid uvula, Hypoplasia of the maxilla, Gastroesophageal reflux, Microretrognathia, Long philtrum... ORPHA:828
Immunodeficiency 10
Amelogenesis imperfecta OMIM:612783
Smith-Lemli-Opitz Syndrome
Gastroesophageal reflux, Microglossia, Long philtrum, Tooth agenesis, Abnormal dental enamel morp... ORPHA:818
Pallister-Killian Syndrome
Micrognathia, Congenital diaphragmatic hernia, Everted lower lip vermilion, Anal atresia, Obesity... OMIM:601803
Bosma Arhinia Microphthalmia Syndrome
Cleft lip, Dental malocclusion, Inguinal hernia, Paranasal sinus hypoplasia, High palate, Hypopla... OMIM:603457
Intrinsic Factor Deficiency
Absence of intrinsic factor OMIM:261000
Osteogenesis Imperfecta
Dentinogenesis imperfecta, Abnormality of the dentition, Carious teeth, Dental malocclusion, Dela... ORPHA:666
Bronchogenic Cyst
Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia ORPHA:2357
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Erythema, Papule, Failure to thrive, Camptodactyly of finger, Abnormal dental enamel morphology, ... ORPHA:2273
Osteogenesis Imperfecta, Type Iv
Dentinogenesis imperfecta OMIM:166220
Microgastria-Limb Reduction Defect Syndrome
Microgastria, Gastroesophageal reflux, Failure to thrive, Intestinal malrotation, Esophagitis, Pe... ORPHA:2538
Hypophosphatemic Rickets, X-Linked Dominant
Enamel hypomineralization OMIM:307800
Lacrimoauriculodentodigital Syndrome 1
Carious teeth, Xerostomia, Delayed eruption of primary teeth, Microdontia, Absence of Stensen duc... OMIM:149730
Williams Syndrome
Carious teeth, Open bite, Micrognathia, Everted lower lip vermilion, Rectal prolapse, Gastroesoph... ORPHA:904
Proteus Syndrome
Carious teeth, Tooth agenesis, Abnormal dental enamel morphology, Generalized hyperkeratosis, Ver... ORPHA:744
Tetrasomy 9P
Bifid uvula, Dental crowding, Downturned corners of mouth, Umbilical hernia, Abnormal dental enam... ORPHA:3310
Osteogenesis Imperfecta, Type Xvii
Dentinogenesis imperfecta OMIM:616507
Osteogenesis Imperfecta, Type Viii
Dentinogenesis imperfecta, Inguinal hernia OMIM:610915
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Gastric varix, Esophageal varix, Hepatocellular carcinoma ORPHA:64743
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Amelogenesis imperfecta OMIM:248190
X-Linked Hypophosphatemia
Cellulitis, Abnormal dentin morphology, Tooth abscess, Enthesitis, Odontodysplasia ORPHA:89936
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Gastric varix, Esophageal varix OMIM:620367
Hardikar Syndrome
Failure to thrive, Unilateral cleft lip, Umbilical hernia, Intestinal malrotation, Preauricular p... OMIM:301068
Congenital Tracheal Stenosis
Meckel diverticulum, Duodenal stenosis, Abnormal stomach morphology, Abnormal gastrointestinal tr... ORPHA:141127
Singleton-Merten Syndrome 1
Hypoplasia of the maxilla, Carious teeth, Eruption failure, Hypoplasia of the tooth germ, Decreas... OMIM:182250
Metachromatic Leukodystrophy
Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal duodenum morphology, Intussusc... ORPHA:512
Johanson-Blizzard Syndrome
Aplasia cutis congenita of scalp, Colonic diverticula, Failure to thrive, Anteriorly placed anus,... OMIM:243800
Proximal Renal Tubular Acidosis
Enamel hypomineralization, Failure to thrive ORPHA:47159
Viss Syndrome
Cleft soft palate, Micrognathia, Contracture of the proximal interphalangeal joint of the 2nd toe... OMIM:619472
Osteogenesis Imperfecta, Type Vii
Dentinogenesis imperfecta, Long philtrum OMIM:610682
Epidermolysis Bullosa, Junctional 2A, Intermediate
Oral mucosal blisters OMIM:619783
Epidermolysis Bullosa, Junctional 2B, Severe
Oral mucosal blisters OMIM:619784

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Lama3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Lama3.

No publications found that use IMPC mice or data for Lama3.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Lama3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Lama3tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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